raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98922

Blake pouch cyst

Type
Morphological anomaly
Group
Disorder
Age of onset
Antenatal
Status
active

Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBlake pouch cyst
frPersistance du kyste de la poche de Blake
deBlake-Pouch-Zyste
esQuiste de la bolsa de Blake
itCisti della tasca di Blake
nlBlake's-pouch-cyste
ptQuisto da bolsa de Blake
plTorbiel kieszonki Blake'a
csBlake-pouch cysta
ukКіста сумки Блейка
zhBlake囊肿
trBlake kese kisti

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q03.1NTBTattributedvalidated
MONDO0020351Evalidated
UMLSC3662124Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card